Canonical Allele Identifier: CA2684857063

Gene: SMO

Linked Data

• gnomAD v4: 7-129213079-C-CGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213079_129213080insGGCG , CM000669.2:g.129213079_129213080insGGCG	GRCh38
NC_000007.13:g.128852920_128852921insGGCG , CM000669.1:g.128852920_128852921insGGCG	GRCh37
NC_000007.12:g.128640156_128640157insGGCG	NCBI36
NG_023340.1:g.29208_29209insGGCG
NG_023340.2:g.29208_29209insGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*628_*629insGGCG MANE Select	ENSP00000249373.3:n.*628_*629insGGCG
ENST00000655644.1:c.*2747_*2748insGGCG	ENSP00000499377.1:n.*2747_*2748insGGCG
ENST00000249373.7:c.*628_*629insGGCG	ENSP00000249373.3:n.*628_*629insGGCG
NM_005631.4:c.*628_*629insGGCG	NP_005622.1:n.*628_*629insGGCG
XM_011516522.1:c.*628_*629insGGCG	XP_011514824.1:n.*628_*629insGGCG
XM_024446891.1:c.*628_*629insGGCG	XP_024302659.1:n.*628_*629insGGCG
NM_005631.5:c.*628_*629insGGCG MANE Select	NP_005622.1:n.*628_*629insGGCG